Varaico: Literature-Extracted Genetic Variants

ATP2B3

266 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enz...

Pfam Domains

Cation_ATPase_Naa 51–121UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 190–293UCSCP-type ATPase actuator domain

Cation_ATPaseaa 507–686UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 764–839UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 876–1058UCSCCation transporting ATPase, C-terminus

ATP_Ca_trans_Caa 1100–1146UCSCPlasma membrane calcium transporter ATPase C terminal

Gene Aliases

HGNC Name

ATPase plasma membrane Ca2+ transporting 3

HGNC Previous Symbols

SCAX1; CLA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001001344.3

p.W176del1

c.526_527delTGG

Surrounding Variants

1 paper

NM_001001344.3

p.E179D

c.537G>C

1 paper

NM_001001344.3

p.E179D

c.537G>T

1 paper

NM_001001344.3

p.T171delFs

c.511_512delAC

1 paper

NM_001001344.3

p.L169L

c.505C>T

1 paper

NM_001001344.3

p.R183*

c.547C>T

4 papers

NM_001001344.3

p.V168G

c.503T>G

1 paper

NM_001001344.3

p.G184V

c.551G>T

1 paper

NM_001001344.3

p.L185del1

c.553_554delCTG

1 paper

NM_001001344.3

p.C166F

c.497G>T

1 paper

NM_001001344.3

p.I165_C166del2

c.493_497del6

1 paper

NM_001001344.3

p.V164I

c.490G>A

1 paper

NM_001001344.3

p.S187I

c.560G>T